Hemochromatosis

Hemochromatosis

11/26/2007

Question:

I am a 37 y/o male. Had high cholesterol for a few years. Dr. put me on Vytorin for it and checked labs every 6 months or so. Liver readings came back high 2 weeks ago (72 and 123, I think). So...further labs, which came back with a ferritin reading of 734. Dr. said he suspected hemochromatosis. So, further labs were taken. However, he told me on Friday that the transferrin(?) levels came back normal (40, I think) and that I was slightly anemic. He said that he still thought it was hemochromatosis, but that he was flabbergasted by this and that he would check with a GI. Also, by father, who is 62, is having much the same situation. Only real difference has been that his ferritin readings were close to 600. Further, his mother died in 2003 with liver cancer (she never really went to the Dr. before cancer, so we don`t really know much else about her situation, other than that she had a sister who died at about 60 y/o with chirrosis (?) even though she never drank). Does this sound like hemochromatosis? If not, any thoughts? Thank you.

Answer:

Certainly given your history of some suspicious disorders in certain family members including liver cancer and cirrhosis, hemochromatosis is definitely one of the conditions that needs to be ruled out. A transferrin saturation index of 40 is not diagnostic of either disease or lack of disease.

In this situation, I feel it would be appropriate for you to see a specialist for further evaluation to consider genetic testing as a more definitive diagnostic tool. If we can help at the OSU Center, please feel free to contact us.

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